Theme 1: Game Changers in Research: breakthroughs in science; examples of patient engagement in research; examples of health services research; examples of public-private initiatives to address the gaps in research and create opportunities.

Authors:  Hanisch Marcel, Kleinheinz Johannes, Hanisch Lale, Jackowski Jochen

Authors: Catherine Turner

  • P4- Deciphering the Mechanisms of Developmental Disorders: the DMDD research programme

Authors: Jenna Lane and the DMDD Consortium

Authors: Donna Grogan, Stéphanie Hoffmann, Betsy Bogard, Chris Bedford-Gay

  • P13- The Hidden Costs of Rare Diseases: A Feasibility Study (work in progress)

Authors: Amy Simpson, Amy Turner

Authors: Helena Kääriäinen, Minna Brunfeldt

Authors: Michael Orth, Juliana Bronzova, Christine Tritsch, Ray Dorsey, Jean-Marc Burgunder, Armin Gemperli


Theme 2: Game Changers in Diagnosis: Examples of innovative models/projects/outcomes of studies on how to improve diagnosis for patients through data generation, sequencing, etc. to be used in clinical practice and therapy development; initiatives on how to improve healthcare pathways; advances / breakthroughs in diagnostic possibilities for undiagnosed patients; initiatives on how best to organise diagnostic services at national and European level; reports on experiences and best practices of harmonizing/standardizing research & clinical practice; stories about what a difference a diagnosis makes to families even if it doesn’t alter the medical management of the condition

Authors: Frances J. D. Smith, Neil J. Wilson, Edel A. O’Toole, Maurice A. van Steensel, Philip Gard, C. David Hansen, Mary E. Schwartz, Eli Sprecher

Authors: Sandra Mehmecke, Susanne Blöß, Christian Klemann, Werner Lechner, Frank Klawonn, Ann-Katrin Rother, Lorenz Grigul

Authors:  Ermanno Rizzi, Bruno Dallapiccola, Angelo Selicorni, Nicola Brunetti-Pierri, Giancarlo Parenti, Sandro Banfi, Marco Tartaglia, Lucia Monaco, Lele Castello, Vincenzo Nigro

Authors: Claudia Cozma and Marius Ionut Iurascu, Sabrina Eichler, Susanne Zielke, Arndt Rolfs


Theme 3: Game Changers in Drug Development, Authorisation and Access: Early access initiatives; international collaboration fostering development of orphan medicinal products in Europe; patient organisation involvement in the development of orphan medicinal products in Europe; initiatives/access programmes aiming to fast-track development for rare & life threatening diseases; multi-stakeholder approaches to creating adaptive and collaborative development; “non-traditional” development teams; innovative clinical study designs; practical examples of how Member States are working together for pricing and reimbursement negotiations

Authors: Benoit Arnould, Khadra Benmedjahed, Catherine Acquadro

Authors: Johanna H. van der Lee, Armin Koch, Egbert H.E. Biesheuvel, Cor Oosterwijk, Caridad Pontes, Martin Posch, Ferran Torres, Rieke van der Graaf, G. Caroline M. van Baal, Kit C.B. Roes

Authors: Y. Schuller, C.E.M. Hollak, C.C. Gispen-de Wied, V. Stoyanova, M. Biegstraaten

Authors: Leslie Amass, Márcia Waddington Cruz, Denis Keohane, Jeffrey Schwartz, Huihua Li, Balarama Gundapaneni

Authors:  Denis Keohane, Jeffrey Schwartz, Balarama Gundapaneni, Michelle Stewart, Leslie Amass

  • P60-  Positive real-world effectiveness of tafamidis in delaying progression in transthyretin familial amyloid polyneuropathy

Authors: Michelle Stewart, Denis Keohane, Sarah Short, Jose Alvir, Moh-Lim Ong, Rajiv Mundayat

Authors: Christine Fetro, Roseline Favresse, Nicolas Pineau, Anne-Sophie Miossec, Nadège Penhaleux

Authors: Benedetta Polsinelli, Frauke Naumann-Winter, Segundo Mariz, Bruno Sepodes, Tsigkos Stylianos

  • P53- Understanding the Wider Impact of Adrenal Insufficiency: Patient Organisation Involvement in the TAIN Project

Authors: Amy Simpson, Amy Hunter, Martin Whitaker

  • P57- Patient Perspectives and Priorities on Access to Medicines for Rare Diseases in Scotland

Authors: Nick Meade, Louise Coleman, Natalie Frankish, Emma Hughes, Beth McCleverty, Emily Muir, Amy Simpson,

Authors:  Andrea Ecker, Franca Ligas, Segundo Mariz, Frauke Naumann-Winter, Karl-Heinz Huemer, Armando Magrelli, Pippo Capovilla, Koen Norga, Bruno Sepodes

Authors:  Rhian Rowe Morgan, Angela Burgess, Emma Hughes, Rhian Morgann

Authors: C. Olsen, R. Head, A. Asero, S. Venturella, L. Favennec, C. van Kan

Authors: R. Head, C. Olsen, E. Hoffman, K. Bushby, E. Vroom, D. Athanasiou, R. Davis, M. Guglieri, M. Guglieri,

Authors: Elin Haf Davies

Authors: Fredrick Van Goor, PhD1; Julie Selkirk, PhD1; Andrew Cutting, PhD1; James Sullivan , PhD2
1. Vertex Pharmaceuticals Incorporated, San Diego, CA, United States; 2. Vertex Pharmaceuticals Incorporated, Boston, MA, United States


Theme 4: Game Changers in Care Provision: Reports on experiences and best practices of Centres of Expertise, existing national and European networks; examples of how national networks have developed, from seed to success; examples of how networking has significantly improved care for patients; concepts for applications for ERN; reports on experiences or results of studies on what kind of clinical outcomes and data are relevant to measure benefit for patients; outcomes of national and European rare disease specific patient registries; good clinical practice guidelines; reports on experiences of eHealth platforms; new mHealth (mobile) tools to interest patients; reports on experiences and best practices for e-prescriptions; experiences on how to connect networks to local (national or regional) healthcare systems; examples of building case manager teams; reports on experiences of educating healthcare professionals and patients learning from each other

Authors: Sonia Pavan, Kathrin Rommel, Maria-Elena Mateo Marquina, Valérie Lanneau, Sylvie Maiella, Ana Rath

Authors: Jonker AH, Lau LPL, on behalf of the IRDiRC PCOM Task Force

Authors: Kristina Franck, Risto Heikkinen, Elina Rantanen and Kati Saari

Authors: K. Karsenberg, M. Segers, I. Roelofs, S. van Breukelen, C. Oosterwijk.

Authors:  Mariette H.E. Driessens, Lisa van Bodegom, Anne Speijer, C. Oosterwijk, Hedy A. van Oers Lotte. Haverman, Perrine F. Limperg, Marjolein Peters

Authors: J.E. Carlier-de Leeuw van Weenen, P.G.M. van Overveld, G.J.B. van Ommen, M.C. Cornel, C. Oosterwijk, N.M.T. Bovy-van der Lugt, W.A.G. van Zelst-Stams

Authors: H. Hintner, M. Laimer, J. Rebhan, J.W. Bauer, G. Pohla-Gubo

Authors: G. Pohla-Gubo, J. Rebhan, E. Rettenbacher, I. Bregulla, H. Hintner

Authors: S. Baldanzi, C. Simoncini, G. Ricci, L. Volpi, R. Lorio, F. Bevilacqua, A. Petrucci, C. Angelini, G. Siciliano

Authors:  M. Volta, E. Rozzi, M.T. Montella

Authors: Dorica Dan, Zsuzsa Almasi, Florina Breban

Authors:  M. Volta, E. Rozzi, M.T. Montella

Authors: Maria del Mar Mañú-Pereira, Victoria Gutiérrez-Valle, Joan Lluis Vives-Corrons

Authors: G.Siciliano M Mancuso

Authors: De Santis M, Gentile AE, Ferrelli RM, Polizzi A, Taruscio D

Authors: Michael W. Konstan1; Edward McKone2; Richard B. Moss3; Gautham Marigowda4; Jon Cooke4; Xiaohong Huang4; Barry Lubarsky4; Jaime Rubin4; Stefanie Millar5; David J. Pasta5;Nicole Mayer-Hamblett6,7; Christopher H. Goss7; Wayne Morgan8; Gregory Sawicki9

Theme 5: Game Changers in Social Policy: social research and surveys on social or economic challenges of people with a rare disease; studies on the cost-benefit and socio-economic impact of integrated care provision for complex health conditions; experiences of case management teams for chronic, rare or non-rare diseases; innovative solutions and programmes that address the social and other non-medical needs of rare disease patients; models for promoting independent living for people with a rare disease; studies on the impact of involving patients in the planning of social services; rare disease training programmes for social services providers

Authors: Siobhan Bourke, Catrin Plumpton and Dyfrig Hughes

Authors: Ian Johnston, Raquel Castro, Lisen Julie Mohr, Dorica Dan

Authors: Michelle Griffin, Sarah Stevens, Charlotte McClymont and the NCARDRS Team

  • P120- Key Issues to Support the Integration of Rare Diseases into Social Services and Policies

Authors: Dorica Dan, Raquel Castro

Authors: Alessia Daturi, Anna Ambrosini, Sara Casati

Authors: Emily Muir, Natalie Frankish

  • P112- Patient/Rare Navigators Helps PLWRD Manage

Authors: Stephanie Jøker Nielsen, Birthe Byskov Holm

Authors: Pauline McCormack


Theme 6: Game Changers in Global Society: examples of creative and successful ways of using social media to generate new knowledge, break isolation or gather patient reported outcomes, raise public awareness, attract younger audiences, and/or gather information for research (clinical trials), etc.; examples of how you are working towards building greater international synergy to make a difference at global, national and local levels

Authors: Frédéric Pauer, Jens Göbel, Holger Storf, Svenja Litzkendorf, Ana Babac, Martin Frank, Verena Lührs, Leena Bruckner-Tudermann, Joerg Schmidtke, Lisa Biehl, Thomas O. F. Wagner, Frank Ückert, Johann-M. Graf von der Schulenburg, Tobias Hartz

Authors: Elena Krasilnikova

Authors: Ferrelli Rita Maria, Gentile Amalia Egle, De Santis Marta, Taruscio Domenica

  • P131- Bridging the Gaps between Medical and Social Care For People Living With a Rare Disease

Authors: Raquel Castro

Authors: Ana Rath, Sylvie Maiella

Authors: Rita Mingarelli, Serena Ciampa, Martina Di Giacinto, Francesca Clementina Radio, Roberta Ruotolo, Bruno Dallapiccola

Authors: Julie Walters, Kassandra Karpathakis, Pete Chan, Sarah Venugopal

  • P124-  Campaign and Events in Collaboration between Different Rare Stakeholders in Sweden

Authors:  Mette Kristina Højgaard Larsen, Veronica Wingstedt de Flon

Authors:  Koichi Mikami

Authors: Ferrelli Rita Maria, Gentile Amalia Egle, De Santis Marta, Taruscio Domenica

Authors: De Santis Marta, Gentile Amalia Egle, Ferrelli Rita Maria, Polizzi Agata, and Taruscio Domenica


Theme 7: Rare Disease Patient Groups Innovations as Game Changers: innovative strategies/approaches/services or projects which could potentially be useful to other patient groups/healthcare professionals/academia or which deserve to be promoted internationally and recognised by national and European authorities.

Authors: Karen Ritchie, Jenny Harbour, Lorna Thompson

  • P140- A qualitative study on the involvement of patients in orphan drug trials

Authors: Charlotte M.W. Gaasterland, M.C. Jansen-van der Weide, Johanna H. van der Lee

Authors: Elina Rantanen

Authors: Neal S. Mantick and the International FOP Association Research Committee

Authors: H.K. Dekker, M.C. Effing-Boele, M.J.A. Hammann

Authors: Hannah Grant, Debra Fine, Emma Keohane, Victoria Ward, Lucy McKay and Pat Roberts

Authors: Crimi Marco, DeWoody Yssa, Deguisne Ingrid, Marin Eva, Shutte Jan, Surud Hiwaitzi, Azzali Stefania

Authors: Fiorucci A., Marra M., De Nunzio M., Ricchiuto C.

Authors: Rhian Rowe Morgan, Angela M Burgess, Emma L Hughes

  • P159- Syndromes and Diseases without a Name: A European Problem

Authors: Lauren Roberts, Marianne Nijnuis

Authors: Dorica Dan, Florina Breban, Zsuzsa Alm

Authors:  Pinnelli S., Fiorucci A., Marra M., De Nunzio M., Ricchiuto C.

Authors: Emily Crossley, Becky Davis, Cathy Turner, Michela Guglieri, Kate Bushby

Authors: Barač Anja, Marinović Valentina, Martić Anja, Obradović-Kuridža Neven, Rašić Dušan, Šaler Fran, Šoštar Nikola, Vizjak Maja

Authors: Schirinzi Erika, Lucchesi Cinzia, Giorli Elisa, Cocito Dario, Nobile Orazio Eduardo, Bochicchio Mario, Siciliano Gabriele, Marra Massimo

Authors: Daniel Lewi, Patricia Durao

Authors: Mark W Skinner, Mariëtte Driessens, Randall Curtis, Neil Frick, Alfonso Iorio, Michael Nichol, Declan Noone, Brian O’Mahony, David Page, Jeffrey Stonebraker

Authors: Anne-Grethe Lauridsen, Nina Tuxen, Stephanie Jøker Nielsen, Pia Seitzberg, Annika Dybdal

  • P149-  The Role of a Patient Organisation in Driving the Research Agenda in a Rare Disease (Batten Disease)

Authors:  Heather Ann Band, Andrea West


Theme 8: Other/open topic: what would you like to say about your disease, your actions, and your vision?

Authors: Marianne Irmler

Authors:  Dong Dong, Ji Liu

  • P177-  Do myeloma patients experience worse care than the cancer average? Findings from secondary analysis of patient-reported experience data,

Authors: Sarah Richard, Clare Shaw

Authors: E. Thompson, P. Powell, D. Smyth

  • P186- Evaluating the use of wearable technology and mobile apps to monitor diseases

Authors: Davies, E.H., Skinner, J., Colin-Histed, T., Singh, M., Vellodi, A. Jagadeesh, S

Authors: Baiba Ziemele

Authors: Franzisca Dulas, Magdalena María Marx, Céline Angin, Rémy Choquet, Paola Facchin, Stefanie

Authors: Charlotte Gueydan, Sylvie Maiella, Annie Olry, Valerie Lanneau, Martin Arles, Charlotte Rodwell, Marc Hanauer, Ana Rath

Authors: Marta Sjenicic, Marko Milenkovic, Milos Milenkovic, Isidora Jaric

Authors: Rhian Morgan, Angela M Burgess, Emma L Hughes

Authors: Sylvie Maiella, Ana Rath

Authors: Volker Straub, Kate Bushby, Kathryn Wagner, Kim Down

  • P170-  Estimating Prevalence of Non-HIV Associated Lipodystrophy (LD)

Authors: Elaine Chiquette, David Araujo, Praveen Dhankhar, Jerome Premmereur, Abhimanyu Garg

  • P172- Premium Costumer Survey

Authors: Birthe Byskov Holm, Lene Jensen

Authors: Elisabeth Wallenius, Birthe Byskov Holm, Mirja Heikkila, Guðmundur Björgvin Gylfaso, Hedevig Castberg

Authors: Masatoshi Iwasaki, Yukiko Nishimura, Kunihiro Nishimura, Shun Emoto, J-RARE patient organization groups and Soichi Ogishima

Authors: Jasjote Grewal

  • P190- Children’s Book: The Recipe for a Person

Authors: Sanna Kalmari, Ulla Parisaari, Ilona Partanen



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